Linked Data
ClinVar Variation Id:
210625
ClinVar RCV Id:
RCV000193796
dbSNP Id:
rs150055194
ExAC:
16:89258719 T / G
gnomAD v2:
16-89258719-T-G
gnomAD v3:
16-89192311-T-G
gnomAD v4:
16-89192311-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89192311T>G , CM000678.2:g.89192311T>G | GRCh38 |
| NC_000016.9:g.89258719T>G , CM000678.1:g.89258719T>G | GRCh37 |
| NC_000016.8:g.87786220T>G | NCBI36 |
| NG_012055.1:g.25557T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.1722T>G MANE Select | ENSP00000289746.2:p.Pro574= | |
| ENST00000289746.2:c.1722T>G | ENSP00000289746.2:p.Pro574= | |
| NM_004933.2:c.1722T>G | NP_004924.1:p.Pro574= | |
| XM_011522806.1:c.1722T>G | XP_011521108.1:p.Pro574= | |
| NM_004933.3:c.1722T>G MANE Select | NP_004924.1:p.Pro574= |